Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia

Journal of Clinical Investigation

Volumn 102, Issue 1, 1998, Pages 124-129

  Kralovics, Robert ^a,c   Sokol, Lubomir ^b   Prchal, Josef T ^a  

^a University of Alabama at Birmingham   (United States)

^b UNIVERSITY OF LOUISIANA AT LAFAYETTE   (United States)

^c UNIVERSITY OF ALABAMA SCHOOL OF MEDICINE   (United States)

Author keywords

Erythrocytosis; Erythroid; Erythropoietin; Mutation; Polycythemia

Indexed keywords

ERYTHROPOIETIN RECEPTOR;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HUMAN; MALE; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE; POLYCYTHEMIA VERA; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0032128336     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI2886     Document Type: Article

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